Cryptorchidism

Definition

Cryptorchidism is defined as a failure of one or both testes to descend into the scrotum as the male fetus develops and is often discovered on routine newborh physical examination.

Epidemiology

2-5% of full-term and 30% of premature male infants are born with an undescended testicle. It may affect one or both testes; 10 percent of cases are bilateral, and among unilateral cases there is a left-sided predominance

Pathogenesis

Passage through the inguinal canal begins in the 28th week of gestation.Failure to descend may be due to gonadotropin deficiency in utero, decreased Mullerian inhibiting factor, or increased estradiol in the placenta. Absent testes are due to agenesis or intrauterine vascular compromise (eg, torsion).

Differential Diagnosis of Cryptorchidism

Retractile testis - usually can be diagnosed with careful history and physical

Important Historical Points

Were the testes were in a scrotal location in the neonatal period? (ie, before the cremasteric reflex becomes active)

Physical Exam

General: look for syndromic features

Genital:

Note the testicular position, consistency, and size in relation to the opposite testis

Hypoplastic or poorly rugated scrotum or hemiscrotum

Inguinal fullness

Sweep hand from down the inguinal canal to gently express any retained testicular tissue into the scrotum. Hold the testis down for at least 1 minute. This fatigues the cremasteric muscle; when you let go, a retractile will remain in the scrotum whereas an ectopic testis immediately springs out of the scrotum.

Bimanual digital rectal examination (under general anesthesia)

Hypospadias + cryptorchidism: think intersex states

Labs

In infants, consider Karyotype, Electrolytes, LH, FSH, Testosterone, and Mullerian inhibiting factor. Also consider adrenal hormones and metabolites (such as 17-hydroxyprogesterone). In older children, it may be adequate just to check testosterone, LH, FSH, and MIS.

Imaging

Imaging usually lacks sensitivity in detecting nonpalpable testis. Consider an ultrasound to look for gonads and to exclude the presence of a uterus. Also consider an ultrasound in obese boys, as the testes may be difficult to feel on exam.

Complications

Complications often minimized by prompt recognition and timely referral for treatment

Testicular germ cell cancers

NOTE: surgical correction of malposition (orchiopexy) reduces but does not eliminate the risk of having testicular cancer

Often occurs in association with the development of a testicular tumor (growing mass twists on itself)

Inguinal hernia

90% of undescended testes are associated with patent processus vaginalis

May present with an incarcerated or strangulated inguinal hernia

Treatment

Timing is key!! Changes related to fertility occur in the undescended testicle as young as 1 year of age; thus orchiopexy is best performed before the changes occur, ideally as soon as possible after 6 months of age. Treatment can be hormonal, surgical, or both.

Hormonal

Descent sometimes can be induced with hCG

GnRH appears to be comparable to hCG in achieving testicular descent but is not approved for use in the US

Surgical

Orchiopexy

If testicle is palpable.

The testicle is manipulated into the scrotum and sutured in place.

The most significant complication of orchiopexy is testicular atrophy (rare).

Exploration

If testicle is non-palpable.

May approach openly through groin or laparoscopically.

This procedure determines whether or not the testis is present, positions and fixes viable testes within the scrotum; and removes nonviable testicular remnants.